Variant report

Variant	nsv826383
Chromosome Location	chr12:58118080-58123647
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:614)
CpG islands
(count:733)
Chromatin interactive
region (count:27)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:614 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:58119958-58120208	HepG2	liver:	n/a	n/a
2	ATF3	chr12:58120346-58120795	A549	lung:	n/a	chr12:58120594-58120614
3	ATF3	chr12:58119607-58120232	A549	lung:	n/a	n/a
4	BACH1	chr12:58119714-58121846	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr12:58119580-58121022	A549	lung:	n/a	chr12:58120685-58120694
6	BCL3	chr12:58121029-58121344	GM12878	blood:	n/a	n/a
7	BHLHE40	chr12:58119875-58120139	HepG2	liver:	n/a	n/a
8	BRCA1	chr12:58119813-58120122	Hela-S3	cervix:	n/a	n/a
9	BRCA1	chr12:58119835-58120019	HepG2	liver:	n/a	n/a
10	CBX3	chr12:58121502-58121792	K562	blood:	n/a	n/a
11	CEBPB	chr12:58121618-58121811	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr12:58119918-58120552	Hela-S3	cervix:	n/a	n/a
13	CHD2	chr12:58119819-58120665	Hela-S3	cervix:	n/a	n/a
14	CHD2	chr12:58119909-58120188	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr12:58119746-58120233	HepG2	liver:	n/a	n/a
16	CHD2	chr12:58121125-58121811	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr12:58120448-58120580	HepG2	liver:	n/a	n/a
18	CREB1	chr12:58119756-58120062	A549	lung:	n/a	n/a
19	CREB1	chr12:58120186-58120976	A549	lung:	n/a	n/a
20	CREB1	chr12:58119710-58120127	A549	lung:	n/a	n/a
21	CTBP2	chr12:58119696-58120418	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr12:58119920-58120070	HVMF	connective:	n/a	n/a
23	CTCF	chr12:58119940-58120090	GM12869	blood:	n/a	n/a
24	CTCF	chr12:58119920-58120070	WERI-Rb-1	eye:	n/a	n/a
25	CTCF	chr12:58120760-58120910	BJ	skin:	n/a	n/a
26	CTCF	chr12:58120640-58120790	GM12867	blood:	n/a	n/a
27	CTCF	chr12:58119920-58120070	WI-38	lung:	n/a	n/a
28	CTCF	chr12:58119866-58120143	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr12:58120369-58120565	MCF-7	breast:	n/a	n/a
30	CTCF	chr12:58120460-58120610	AG04449	skin:	n/a	n/a
31	CTCF	chr12:58119620-58119770	HEEpiC	esophagus:	n/a	n/a
32	CTCF	chr12:58119960-58120110	WI-38	lung:	n/a	n/a
33	CTCF	chr12:58119900-58120050	GM12873	blood:	n/a	n/a
34	CTCF	chr12:58120600-58120750	HAc	cerebellar:	n/a	n/a
35	CTCF	chr12:58119900-58120050	GM12870	blood:	n/a	n/a
36	CTCF	chr12:58119900-58120050	HA-sp	spinal cord:	n/a	n/a
37	CTCF	chr12:58120680-58120830	WERI-Rb-1	eye:	n/a	n/a
38	CTCF	chr12:58119940-58120090	AoAF	blood vessel:	n/a	n/a
39	CTCF	chr12:58119781-58120235	A549	lung:	n/a	n/a
40	CTCF	chr12:58120640-58120790	A549	lung:	n/a	n/a
41	CTCF	chr12:58119920-58120070	HMEC	breast:	n/a	n/a
42	CTCF	chr12:58120709-58120889	MCF-7	breast:	n/a	n/a
43	CTCF	chr12:58120738-58120900	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr12:58119900-58120050	HCT-116	colon:	n/a	n/a
45	CTCF	chr12:58119880-58120030	GM12875	blood:	n/a	n/a
46	CTCF	chr12:58119871-58120127	Lung_OC	lung:	n/a	n/a
47	CTCF	chr12:58119884-58120124	Pancreas_OC	pancreas:	n/a	n/a
48	CTCF	chr12:58119906-58120104	K562	blood:	n/a	n/a
49	CTCF	chr12:58119820-58119970	GM12872	blood:	n/a	n/a
50	CTCF	chr12:58119920-58120070	BJ	skin:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:58120635-58120685	HEEpiC	esophagus:	n/a
2	chr12:58120635-58120685	HEEpiC	esophagus:	n/a
3	chr12:58119543-58119593	AG09309	skin:	n/a
4	chr12:58119992-58120042	GM12891	blood:	n/a
5	chr12:58119915-58119965	HRE	kidney:	n/a
6	chr12:58119915-58119965	MCF-7	breast:	n/a
7	chr12:58121550-58121600	GM12892	blood:	n/a
8	chr12:58121550-58121600	HepG2	liver:	n/a
9	chr12:58119607-58119657	HAEpiC	amniotic membrane:	n/a
10	chr12:58122341-58122391	AG09309	skin:	n/a
11	chr12:58120237-58120287	HCM	heart:	n/a
12	chr12:58119915-58119965	SK-N-SH_RA	brain:	n/a
13	chr12:58119915-58119965	GM12891	blood:	n/a
14	chr12:58119918-58119968	ovcar-3	ovarian:	n/a
15	chr12:58121004-58121054	NH-A	brain:	n/a
16	chr12:58119915-58119965	NHBE	bronchial:	n/a
17	chr12:58120635-58120685	PANC-1	pancreas:	n/a
18	chr12:58119979-58120029	ECC-1	luminal epithelium:	n/a
19	chr12:58122341-58122391	BE2_C	brain:	n/a
20	chr12:58122341-58122391	SK-N-SH	brain:	n/a
21	chr12:58119918-58119968	HEEpiC	esophagus:	n/a
22	chr12:58119915-58119965	Caco-2	colon:	n/a
23	chr12:58122341-58122391	HPAEpiC	pulmonary alveolar:	n/a
24	chr12:58119915-58119965	NH-A	brain:	n/a
25	chr12:58120237-58120287	GM19239	blood:	n/a
26	chr12:58119543-58119593	HRCEpiC	kidney:	n/a
27	chr12:58119543-58119593	MCF-7	breast:	n/a
28	chr12:58119915-58119965	SK-N-MC	brain:	n/a
29	chr12:58120635-58120685	GM12878	blood:	n/a
30	chr12:58121004-58121054	BE2_C	brain:	n/a
31	chr12:58121004-58121054	PFSK-1	brain:	n/a
32	chr12:58119979-58120029	HEK293	kidney:	embryo
33	chr12:58120635-58120685	AG04450	lung:	fetal
34	chr12:58120635-58120685	NH-A	brain:	n/a
35	chr12:58121550-58121600	HEEpiC	esophagus:	n/a
36	chr12:58119992-58120042	K562	blood:	n/a
37	chr12:58119918-58119968	ECC-1	luminal epithelium:	n/a
38	chr12:58122341-58122391	GM12892	blood:	n/a
39	chr12:58119915-58119965	HL-60	blood:	n/a
40	chr12:58120011-58120061	HEK293	kidney:	embryo
41	chr12:58119543-58119593	AG10803	skin:	n/a
42	chr12:58120237-58120287	SK-N-SH	brain:	n/a
43	chr12:58121550-58121600	SKMC	muscle:	n/a
44	chr12:58120237-58120287	HepG2	liver:	n/a
45	chr12:58119992-58120042	HCPEpiC	choroid plexus:	n/a
46	chr12:58121004-58121054	NHDF-neo	bronchial:	n/a
47	chr12:58120635-58120685	U87	brain:	n/a
48	chr12:58119979-58120029	AoSMC	blood vessel:	n/a
49	chr12:58119607-58119657	HPAEpiC	pulmonary alveolar:	n/a
50	chr12:58119918-58119968	AG09319	gingival:	n/a

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57856178..57857976-chr12:58122107..58124525,2	K562	blood:
2	chr12:58106636..58108328-chr12:58120642..58122227,2	K562	blood:
3	chr12:57984952..57986609-chr12:58120823..58123199,2	K562	blood:
4	chr12:58002964..58008004-chr12:58117447..58122099,5	MCF-7	breast:
5	chr12:58119523..58120051-chr12:58132094..58132767,2	MCF-7	breast:
6	chr12:58119848..58122577-chr12:58123317..58125774,4	K562	blood:
7	chr12:58108037..58111841-chr12:58122870..58126206,3	K562	blood:
8	chr12:56553083..56553874-chr12:58118705..58119506,2	NB4	blood:
9	chr12:57911913..57914667-chr12:58122854..58126849,5	K562	blood:
10	chr12:58121545..58122179-chr12:58130671..58131607,2	MCF-7	breast:
11	chr12:57983656..57985947-chr12:58119170..58122047,3	MCF-7	breast:
12	chr12:58009848..58012356-chr12:58118975..58121392,2	MCF-7	breast:
13	chr12:57940714..57942505-chr12:58117953..58120525,2	MCF-7	breast:
14	chr12:58119467..58120431-chr2:220042425..220043204,2	Hela-S3	cervix:
15	chr12:57912267..57913858-chr12:58118505..58121411,2	MCF-7	breast:
16	chr12:58026571..58028240-chr12:58118727..58121626,2	MCF-7	breast:
17	chr12:57912789..57915911-chr12:58119258..58122771,4	MCF-7	breast:
18	chr12:57992481..57994669-chr12:58118545..58120936,2	MCF-7	breast:
19	chr12:58119848..58122577-chr12:58123317..58125774,4	K562	blood:
20	chr12:58104338..58106820-chr12:58115614..58118088,2	MCF-7	breast:
21	chr12:58085694..58088995-chr12:58116929..58123534,7	MCF-7	breast:
22	chr12:57906816..57909799-chr12:58115546..58118135,2	K562	blood:
23	chr12:58119624..58120427-chr12:58131646..58132182,3	MCF-7	breast:
24	chr12:57855194..57858007-chr12:58120143..58122352,2	MCF-7	breast:
25	chr12:57984405..57986520-chr12:58117809..58119763,2	MCF-7	breast:
26	chr12:58085407..58089363-chr12:58117669..58123604,12	MCF-7	breast:
27	chr12:57915482..57918597-chr12:58119014..58121092,3	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AGAP2-1	chr12:58117544-58118237	ENSG00000257499.2
2	lnc-AGAP2-1	chr12:58117852-58119448	ENSG00000257499.2
3	lnc-AGAP2-1	chr12:58117852-58119448	ENSG00000257499.1

No data

Variant related genes	Relation type
AGAP2-AS1	TF binding region
ENSG00000257342	TF binding region
ENSG00000257499	TF binding region
AGAP2-AS1	CpG island
ENSG00000257342	CpG island
ENSG00000257499	CpG island
ENSG00000135452	chromatin interactions
ENSG00000111087	chromatin interactions
ENSG00000264046	chromatin interactions
ENSG00000144567	chromatin interactions
ENSG00000255737	chromatin interactions
ENSG00000208028	chromatin interactions
ENSG00000166986	chromatin interactions
ENSG00000135506	chromatin interactions
ENSG00000135454	chromatin interactions
ENSG00000224713	chromatin interactions
ENSG00000240771	chromatin interactions
ENSG00000166908	chromatin interactions
ENSG00000115649	chromatin interactions
ENSG00000135439	chromatin interactions
ENSG00000166987	chromatin interactions
ENSG00000175197	chromatin interactions
ENSG00000092841	chromatin interactions
ENSG00000175203	chromatin interactions

Extended variants
information (count: 181 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:181 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560276737	chr12:58118082-58118083	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
2	rs187072180	chr12:58118109-58118110	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
3	rs560993926	chr12:58118126-58118127	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
4	rs77566780	chr12:58118163-58118164	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
5	rs531218242	chr12:58118171-58118172	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
6	rs191258052	chr12:58118183-58118184	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
7	rs2269720	chr12:58118248-58118249	Weak transcription Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs532416578	chr12:58118269-58118270	Weak transcription Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
9	rs75960044	chr12:58118302-58118303	Weak transcription Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
10	rs554546501	chr12:58118320-58118321	Weak transcription Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
11	rs368821325	chr12:58118337-58118338	Weak transcription Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
12	rs183415660	chr12:58118353-58118354	Weak transcription Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
13	rs536424933	chr12:58118370-58118371	Weak transcription Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
14	rs530550220	chr12:58118430-58118431	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
15	rs550580367	chr12:58118441-58118442	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
16	rs549500622	chr12:58118479-58118480	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
17	rs567708854	chr12:58118495-58118496	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
18	rs537889996	chr12:58118583-58118584	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
19	rs556515243	chr12:58118611-58118612	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
20	rs11172312	chr12:58118646-58118647	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
21	rs376848600	chr12:58118649-58118650	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
22	rs571874859	chr12:58118652-58118653	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
23	rs538931477	chr12:58118670-58118671	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
24	rs554008492	chr12:58118697-58118698	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
25	rs371553581	chr12:58118710-58118711	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
26	rs572325742	chr12:58118722-58118723	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
27	rs116845380	chr12:58118750-58118751	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
28	rs554408576	chr12:58118846-58118847	Bivalent Enhancer Weak transcription Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
29	rs4760169	chr12:58118847-58118848	Bivalent Enhancer Weak transcription Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs543082039	chr12:58118848-58118849	Bivalent Enhancer Weak transcription Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
31	rs564884774	chr12:58118900-58118901	Bivalent Enhancer Weak transcription Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
32	rs12831958	chr12:58118942-58118943	Bivalent Enhancer Weak transcription Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
33	rs188297527	chr12:58119079-58119080	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
34	rs386376657	chr12:58119121-58119122	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
35	rs34556182	chr12:58119139-58119140	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
36	rs200044065	chr12:58119140-58119141	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
37	rs11831301	chr12:58119141-58119142	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
38	rs541361005	chr12:58119178-58119179	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
39	rs559638016	chr12:58119219-58119220	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
40	rs56107029	chr12:58119262-58119263	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
41	rs375207850	chr12:58119331-58119332	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
42	rs1060375	chr12:58119341-58119342	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
43	rs529922641	chr12:58119409-58119410	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
44	rs140124941	chr12:58119464-58119465	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs530416836	chr12:58119470-58119471	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
46	rs567697666	chr12:58119476-58119477	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
47	rs114001995	chr12:58119608-58119609	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
48	rs143847526	chr12:58119662-58119663	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
49	rs571630150	chr12:58119676-58119677	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
50	rs538618224	chr12:58119714-58119715	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:520 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58094400-58119600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:58106200-58120000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:58110000-58119800	Strong transcription	Cortex derived primary cultured neurospheres	brain
4	chr12:58112200-58119600	Weak transcription	NHDF-Ad	bronchial
5	chr12:58113400-58119600	Weak transcription	Hela-S3	cervix
6	chr12:58113400-58119600	Weak transcription	HSMM	muscle
7	chr12:58113400-58119600	Weak transcription	NHEK	skin
8	chr12:58113600-58119200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:58113800-58119800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:58114000-58120600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr12:58114200-58119600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:58114400-58119000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:58114400-58119600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:58115000-58119200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:58115000-58119800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr12:58115000-58120800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:58115200-58118200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:58115200-58119600	Weak transcription	HUVEC	blood vessel
19	chr12:58115200-58123600	Weak transcription	GM12878-XiMat	blood
20	chr12:58115400-58119000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr12:58115400-58119600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr12:58115400-58119600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr12:58115400-58119600	Weak transcription	HepG2	liver
24	chr12:58115600-58118200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr12:58115600-58119000	Weak transcription	Primary B cells from cord blood	blood
26	chr12:58115600-58119200	Weak transcription	HMEC	breast
27	chr12:58115600-58119600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:58115600-58119600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:58115600-58119600	Weak transcription	Colonic Mucosa	Colon
30	chr12:58115600-58119800	Weak transcription	Pancreas	Pancrea
31	chr12:58115600-58124000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr12:58115800-58118400	Weak transcription	Primary T cells from cord blood	blood
33	chr12:58115800-58118800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr12:58115800-58118800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr12:58115800-58119200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:58115800-58119600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:58115800-58119600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr12:58115800-58119600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:58115800-58119600	Weak transcription	Brain Anterior Caudate	brain
40	chr12:58115800-58119600	Weak transcription	Left Ventricle	heart
41	chr12:58115800-58119600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr12:58115800-58119600	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr12:58115800-58119600	Weak transcription	NHLF	lung
44	chr12:58115800-58119800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:58115800-58119800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:58115800-58119800	Weak transcription	Liver	Liver
47	chr12:58115800-58119800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr12:58116000-58118800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:58116000-58119200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr12:58116000-58119200	Weak transcription	Lung	lung

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